hrp0082p1-d2-2 | Adrenals & HP Axis | ESPE2014

Functional Characterization of a Novel Heterozygous Point Mutation in the Human Glucocorticoid Receptor Gene Causing Primary Generalized Glucocorticoid Resistance

Nicolaides Nicolas C , Vlachakis Dimitris , Sertedaki Amalia , Kossida Sophia , Chrousos George P , Charmandari Evangelia

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...